Pitfalls in autism diagnosisPitfalls in autism diagnosis

For ST4-5 trainees 2007For ST4-5 trainees 2007

What is autism?What is autism?

• A triad of impairment A triad of impairment

-deficits in social interaction-deficits in social interaction

-deficits in communication-deficits in communication

-restricted, repetitive behaviours, -restricted, repetitive behaviours, interests or activitiesinterests or activities

Present before 3 years of agePresent before 3 years of age

Asperger’s syndromeAsperger’s syndrome

• Triad of impairment but normal early Triad of impairment but normal early language and normal intelligence.language and normal intelligence.

• Words by age 2y, simple phrase by age 3yWords by age 2y, simple phrase by age 3y

• Often diagnosed later when in school Often diagnosed later when in school when social awkwardness and obsessive when social awkwardness and obsessive interests become recognised.interests become recognised.

• There is unusualness to speech – e.g. There is unusualness to speech – e.g. formal, pedantic, literal, odd accentsformal, pedantic, literal, odd accents

High functioning autismHigh functioning autism

• Normal intelligence but early Normal intelligence but early language delay. Early on may language delay. Early on may appear more severely autistic.appear more severely autistic.

ICD 10 criteria – social areasICD 10 criteria – social areas

• 1. Non-verbal regulation of social 1. Non-verbal regulation of social interaction – eye contact, facial interaction – eye contact, facial expression, social smiling and gestureexpression, social smiling and gesture

• 2. Peer relations, social play, team play2. Peer relations, social play, team play

• 3. Social-emotional reciprocity3. Social-emotional reciprocity

• 4. Spontaneous sharing – interests, 4. Spontaneous sharing – interests, food, toys, spacefood, toys, space

ICD 10 – Communication ICD 10 – Communication areasareas

• 1. Early language or non-verbal 1. Early language or non-verbal communicative attemptscommunicative attempts

• 2. Conversation/reciprocal 2. Conversation/reciprocal responsivenessresponsiveness

• 3. Stereotypic/repetitive/idiosyncratic 3. Stereotypic/repetitive/idiosyncratic languagelanguage

• 4. Imagination – social imitative play4. Imagination – social imitative play

ICD 10 - behavioursICD 10 - behaviours

• 1.obsessive behaviours with unusual 1.obsessive behaviours with unusual or normal interestsor normal interests

• 2. Ritualistic behaviours2. Ritualistic behaviours

• 3. Hand or body mannerisms3. Hand or body mannerisms

• 4. Pre-occupations with part-objects 4. Pre-occupations with part-objects or non-functional (e.g. sensory) or non-functional (e.g. sensory) materialsmaterials

Other common problems in Other common problems in ASDASD• EatingEating

• SleepingSleeping

• ToilettingToiletting

• Agression – to self or othersAgression – to self or others

• Excelling in one area – esp. in AspergersExcelling in one area – esp. in Aspergers

• Epilepsy is more common and may Epilepsy is more common and may present as unusual repetitive behaviourpresent as unusual repetitive behaviour

The diagnostic processThe diagnostic processPaediatric assessment including Paediatric assessment including

development for <5y oldsdevelopment for <5y oldsSLT assessment including pragmaticsSLT assessment including pragmaticsInformation from educationInformation from education+/- info form Psychiatry/psychology+/- info form Psychiatry/psychology+/- info from OT+/- info from OTHearing assessmentHearing assessmentChromosomes and Fragile XChromosomes and Fragile X

Tools usedTools used

• Autism screening Questionnaire(ASQ)Autism screening Questionnaire(ASQ)

• NAPC developmental historyNAPC developmental history

• ADI (Autism diagnostic interview)ADI (Autism diagnostic interview)

• 3DI3DI

• DISCO (diagnostic interview)DISCO (diagnostic interview)

• Pragmatics profile, CCC-L (used by SLT)Pragmatics profile, CCC-L (used by SLT)

• ADOS (semi-formal observation)ADOS (semi-formal observation)

You’re confused! How do You’re confused! How do you think I feel?you think I feel?

Confusing cases 1Confusing cases 1

• 5y old with moderate developmental 5y old with moderate developmental delay especially speech/languagedelay especially speech/language

• Some difficult repetitive behaviours and Some difficult repetitive behaviours and tantrumstantrums

• Difficult behaviour at mainstream school Difficult behaviour at mainstream school – running off, sometimes destructive– running off, sometimes destructive

• Lives with Dad – Mum mental health Lives with Dad – Mum mental health problemsproblems

• Seen school and clinic, EP and SLT infoSeen school and clinic, EP and SLT info

Moderate LDModerate LD

• Motor skills often fineMotor skills often fine• Often Speech and Language main issue initially Often Speech and Language main issue initially

but poor cognitive skills but poor cognitive skills • Play may be repetitive because limited Play may be repetitive because limited

imaginationimagination• Can find it hard to make friends in mainstream Can find it hard to make friends in mainstream

school, but does make social overturesschool, but does make social overtures• Behaviour problems as not able to understand Behaviour problems as not able to understand

what is required of them and attention poor as what is required of them and attention poor as in line with development in line with development

Confusing case 2Confusing case 2

• Adopted child following neglectful care by Adopted child following neglectful care by mother with LDmother with LD

• Mild LDMild LD• Difficult behaviourDifficult behaviour• Tries to make friends, often needs adult Tries to make friends, often needs adult

interventionintervention• Very repetitive playVery repetitive play• Unusual hand movementsUnusual hand movements• Low muscle tone and proprioceptive and Low muscle tone and proprioceptive and

sensory difficultiessensory difficulties

Attachment disorderAttachment disorder

• Early history caused attachment Early history caused attachment disorder and contributed to some of disorder and contributed to some of the sensory behaviour – hated being the sensory behaviour – hated being strapped in car seat, cuddle resistantstrapped in car seat, cuddle resistant

• Compounded by mild LD Compounded by mild LD • Unusual hand movements thought to Unusual hand movements thought to

be due to low muscle tone and be due to low muscle tone and proprioceptive difficultiesproprioceptive difficulties

Confusing case 3Confusing case 3

• Teenager with known ADHDTeenager with known ADHD

• Showing some socialization Showing some socialization difficultiesdifficulties

• Behaviour issuesBehaviour issues

• Under CAMHS – could he be seen Under CAMHS – could he be seen for ?ASDfor ?ASD

ADHD with poor ADHD with poor socializationsocialization• Assess with SLT assessment and NAPC Assess with SLT assessment and NAPC

developmental historydevelopmental history• Find out what the difficulties are in school – Find out what the difficulties are in school –

gets into fights, runs out of lessons, gets into fights, runs out of lessons, particularly bad if supply teacherparticularly bad if supply teacher

• ADHD children are often poor socially because ADHD children are often poor socially because they don’t pay attention in social situations they don’t pay attention in social situations

• ASD can be hidden by ADHD, but often need ASD can be hidden by ADHD, but often need to see if better in less distracting situation and to see if better in less distracting situation and do they have good ‘theory of mind’ do they have good ‘theory of mind’

Confusing case 4Confusing case 4

• 4-5y old4-5y old

• Reluctant to be left at nursery/schoolReluctant to be left at nursery/school

• Fearful of noise and rain, very safety Fearful of noise and rain, very safety conscious – insists seatbelt done up, conscious – insists seatbelt done up, checks things are done as she checks things are done as she demandsdemands

• No social overtures to other children No social overtures to other children and wary of their approachesand wary of their approaches

Anxiety disordersAnxiety disorders

• Can lead to obsessive behaviours Can lead to obsessive behaviours

• Can mean a child is very reluctant to Can mean a child is very reluctant to socializesocialize

• Much better in familiar environments Much better in familiar environments with parent close bywith parent close by

• Usually normal playUsually normal play

• Normal speech and language with no Normal speech and language with no oddness to itoddness to it

Confusing case 5Confusing case 5

• Child never integrated in P/G and Child never integrated in P/G and never went happilynever went happily

• Only talks at homeOnly talks at home

• No concerns re: learningNo concerns re: learning

• Plays fine with brotherPlays fine with brother

• Some obsessive/repetitive Some obsessive/repetitive behavioursbehaviours

Selective mutismSelective mutism

• Could be seen as an extreme anxiety Could be seen as an extreme anxiety disorder where child will talk at home disorder where child will talk at home and not at school ( or only to 1-2 and not at school ( or only to 1-2 people at school.people at school.

• However some people would see this However some people would see this as bordering on ASD so may take a as bordering on ASD so may take a lot of sorting out.lot of sorting out.

• Difficult to assess language as won’t Difficult to assess language as won’t talk to therapist…talk to therapist…

Confusing case 6 Confusing case 6

• TeenagerTeenager• H/o juvenile chronic arthritis when youngerH/o juvenile chronic arthritis when younger• Very reluctant speaker out of the home –has Very reluctant speaker out of the home –has

elective mutism diagnosiselective mutism diagnosis• Has some friends but doesn’t make an effort Has some friends but doesn’t make an effort

to have them roundto have them round• Lacks motivation about what to do after schoolLacks motivation about what to do after school• Worried about her weight – recent diagnosis of Worried about her weight – recent diagnosis of

hypothyroidismhypothyroidism• Mother wonders about ASDMother wonders about ASD

DepressionDepression

• Doing ok at school with supportDoing ok at school with support

• Very flat affect and little facial expressionVery flat affect and little facial expression

• Not motivated to socialize but can enjoy Not motivated to socialize but can enjoy friends when makes the effortfriends when makes the effort

• No unusualness about speech – will now No unusualness about speech – will now talk more freely though some anxietytalk more freely though some anxiety

• No repetitive or obsessive behavioursNo repetitive or obsessive behaviours

• Below cut off on ASQBelow cut off on ASQ

Confusing case 7Confusing case 7

• Child with significant hearing lossChild with significant hearing loss

• Wears hearing aidsWears hearing aids

• Parents both deafParents both deaf

• Very difficult behaviour home and Very difficult behaviour home and schoolschool

Hearing impairment and Hearing impairment and autismautism

• Communication may be less Communication may be less sophisticated because of hearing sophisticated because of hearing loss.loss.

• Look at playLook at play

• Look at communicative attemptsLook at communicative attempts

• Use an interpreterUse an interpreter

• Look at non-verbal communicationLook at non-verbal communication

Confusing case 8Confusing case 8

• Blind childBlind child

• Born premBorn prem

• Obsessive behavioursObsessive behaviours

• Lots of unusual repetitive Lots of unusual repetitive movementsmovements

• Speech delay and some unusualness Speech delay and some unusualness to speechto speech

Blind child with semantic Blind child with semantic pragmatic language disorderpragmatic language disorder• Impossible to assess eye contact and gesturingImpossible to assess eye contact and gesturing• Visual impairment does affect social functioningVisual impairment does affect social functioning• Ok with other childrenOk with other children• Repetitive behaviours diminished once occupied Repetitive behaviours diminished once occupied

and with time as he became more secure in and with time as he became more secure in environment, also as speech improvedenvironment, also as speech improved

• Sensory seeking behaviours are very common in Sensory seeking behaviours are very common in blind children – may need to observe over a blind children – may need to observe over a couple of years to get clarity re: ASDcouple of years to get clarity re: ASD

Confusing case 9Confusing case 9

• Child who refuses to wear certain clothesChild who refuses to wear certain clothes

• Issues over washing and toilettingIssues over washing and toiletting

• Fussy eaterFussy eater

• Poor sleeperPoor sleeper

• Won’t use school toiletsWon’t use school toilets

• Over-reacts if someone brushes past himOver-reacts if someone brushes past him

• Low tolerance for busy situationsLow tolerance for busy situations

• Noise intoleranceNoise intolerance

Sensory integration disorderSensory integration disorder

• Some children have such difficulty Some children have such difficulty processing sensory information processing sensory information appropriately that they present with appropriately that they present with abnormal behaviours and social abnormal behaviours and social difficulties.difficulties.

• OT vitalOT vital

• SLT should find normal languageSLT should find normal language

• Addressing sensory difficulties results in Addressing sensory difficulties results in improved social functioningimproved social functioning

Confusing case 10Confusing case 10

• Mum concerned about child’s Mum concerned about child’s behaviour.behaviour.

• Tells a good story for ASDTells a good story for ASD• No problems at schoolNo problems at school• Child may have some difficulties e.g. Child may have some difficulties e.g.

speech delayspeech delay• Concerns about parenting and social Concerns about parenting and social

concerns may only come to light laterconcerns may only come to light later

Social and parenting Social and parenting difficultiesdifficulties

• Can co-exist with ASD but parenting Can co-exist with ASD but parenting issues also need addressingissues also need addressing

• Often come with too good a storyOften come with too good a story

• Child socially good or markedly Child socially good or markedly better out of the home situationbetter out of the home situation

Diagnostic dilemmas - Diagnostic dilemmas - summarysummary• Children with LDChildren with LD• Attachment disorderAttachment disorder• ADHD + ?ASDADHD + ?ASD• Anxiety disorders affecting social functioningAnxiety disorders affecting social functioning• Selective mutismSelective mutism• DepressionDepression• Severe hearing impairmentSevere hearing impairment• Severe visual impairmentSevere visual impairment• Sensory integration disorderSensory integration disorder• Social and parenting difficultiesSocial and parenting difficulties

All these conditions can co-All these conditions can co-exist with autistic spectrum exist with autistic spectrum disorders but be aware that all disorders but be aware that all that presents as ASD is not. that presents as ASD is not. The key thing is to ensure The key thing is to ensure multi-agency assessment in multi-agency assessment in more than one setting. more than one setting. Diagnosis may be given by a Diagnosis may be given by a Paediatrician but only safely if Paediatrician but only safely if others are involved!others are involved!